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| ID | Type | Description | Link |
|---|---|---|---|
| IND 79276 |
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| Name | Class |
|---|---|
| Families of Spinal Muscular Atrophy | OTHER |
| Leadiant Biosciences, Inc. | INDUSTRY |
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This is a multi-center trial to test safety and evaluate early treatment intervention with valproic acid and carnitine in moderating SMA symptoms of Type I infants.
Spinal muscular atrophy (SMA) is a genetic disorder that results in severe muscle weakness. It is one of the most common conditions causing muscle weakness in children. Patients with SMA most often develop weakness as babies or young children. Most people with SMA gradually lose muscle strength and abilities over time. Babies with the severe infantile form of SMA, SMA type I, usually lose abilities and strength quickly over a few weeks or months.
Valproic acid (VPA) is a medicine that has been used for many years to treat patients with epilepsy. Recent research suggests that VPA may be able to upregulate expression of a backup copy of the SMN gene in SMA patient cell lines. In addition, some preliminary data suggests it may prolong survival in animal models of SMA. Because VPA can deplete carnitine in children with SMA Type I, carnitine is added to help prevent possible toxicity.
In this multi-center trial, we will evaluate the effects of VPA/carnitine on infants with SMA type I. A variety of outcome measures, including assessment of safety, will be performed at each study visit to follow the course of the disease. The protocol includes two baseline visits over a period of two weeks, two clinical assessments on medication at 3 and 6 months, and then 6 months additional followup via telephone. Total duration of the study will be approximately 12 months.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| 1 | Experimental | All patients will receive VPA and carnitine. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Valproic Acid and Levocarnitine | Drug | Drug: Valproic Acid and Levocarnitine; syrup; dosage is by weight |
|
| Measure | Description | Time Frame |
|---|---|---|
| Laboratory Safety Data | -2 weeks, + 2 weeks, 3 months, 6 months | |
| Anthropometric Measures of Nutritional Status (Body Mass Index [BMI] Z-scores, Weight for Length Ratios, Lean/Fat Mass Via DEXA, Growth Parameters, and Triceps Skinfold Measures) | -2 weeks, time 0, 3 months, 6 months |
| Measure | Description | Time Frame |
|---|---|---|
| Time to Death or Ventilator Dependence (Defined as >16 Hours/Day) | monthly | |
| Primary Caregiver Functional Rating Scale for SMA Type I Subjects (PCFRS) | time 0, and monthly for 12 months | |
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Inclusion Criteria:
Exclusion Criteria:
Liver transaminases (AST, ALT), lipase, amylase: > 1.5 x ULN White Blood Cell Count: < 3 Neutropenia: <1 Platelet: <100K Hematocrit: <30, persisting over a 30-day period
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| Name | Affiliation | Role |
|---|---|---|
| Kathryn Swoboda, M.D. | University of Utah | Principal Investigator |
| Sandra P Reyna, M.D. | Families of Spinal Muscular Atrophy | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Johns Hopkins University | Baltimore | Maryland | 21287 | United States | ||
| Children's Hospital of Michigan |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 8912176 | Background | Brahe C, Bertini E. Spinal muscular atrophies: recent insights and impact on molecular diagnosis. J Mol Med (Berl). 1996 Oct;74(10):555-62. doi: 10.1007/s001090050059. | |
| 4245389 | Background | Roberts DF, Chavez J, Court SD. The genetic component in child mortality. Arch Dis Child. 1970 Feb;45(239):33-8. doi: 10.1136/adc.45.239.33. |
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| ID | Title | Description |
|---|---|---|
| FG000 | SMA Type 1 | All patients will receive VPA and carnitine. Valproic Acid and Levocarnitine: Drug: Valproic Acid and Levocarnitine; syrup; dosage is by weight |
| Title | Milestones | Reasons Not Completed | |||||
|---|---|---|---|---|---|---|---|
| Overall Study |
|
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| Functional Motor Assessments: TIMPSI Scores |
| -2 weeks, time 0, 3 months, 6 months |
| Quantitative SMN mRNA and Protein Measures | -2 weeks, time 0 , 3 months, or 6 months |
| Maximum Ulnar CMAP Amplitude/Area and MUNE | -2 weeks, time 0, 3 months, 6 months |
| Whole Body DEXA Scanning for Lean Body Mass and Total Bone Mineral Density/ Content | -2 weeks or time 0, 3 months, 6 months |
| Detroit |
| Michigan |
| 48201 |
| United States |
| Duke University Medical Center | Durham | North Carolina | 27710 | United States |
| Ohio State University Medical Center, Dept. of Neurology | Columbus | Ohio | 43210 | United States |
| University of Utah/Primary Children's Medical Center | Salt Lake City | Utah | 84132 | United States |
| University of Wisconsin Children's Hospital | Madison | Wisconsin | 53792-9988 | United States |
| Hospital Sainte-Justine | Montreal | Quebec | H3T 1C5 | Canada |
| Klinikum der Universität zu Köln | Cologne | 50924 | Germany |
| 745211 | Background | Pearn J. Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy. J Med Genet. 1978 Dec;15(6):409-13. doi: 10.1136/jmg.15.6.409. |
| 2614795 | Background | Czeizel A, Hamula J. A hungarian study on Werdnig-Hoffmann disease. J Med Genet. 1989 Dec;26(12):761-3. doi: 10.1136/jmg.26.12.761. |
| 1822774 | Background | Emery AE. Population frequencies of inherited neuromuscular diseases--a world survey. Neuromuscul Disord. 1991;1(1):19-29. doi: 10.1016/0960-8966(91)90039-u. |
| 1483045 | Background | Merlini L, Stagni SB, Marri E, Granata C. Epidemiology of neuromuscular disorders in the under-20 population in Bologna Province, Italy. Neuromuscul Disord. 1992;2(3):197-200. doi: 10.1016/0960-8966(92)90006-r. |
| 6103267 | Background | Pearn J. Classification of spinal muscular atrophies. Lancet. 1980 Apr 26;1(8174):919-22. doi: 10.1016/s0140-6736(80)90847-8. |
| 11870724 | Background | Bromberg MB, Swoboda KJ. Motor unit number estimation in infants and children with spinal muscular atrophy. Muscle Nerve. 2002 Mar;25(3):445-7. doi: 10.1002/mus.10050. |
| 15852397 | Background | Swoboda KJ, Prior TW, Scott CB, McNaught TP, Wride MC, Reyna SP, Bromberg MB. Natural history of denervation in SMA: relation to age, SMN2 copy number, and function. Ann Neurol. 2005 May;57(5):704-12. doi: 10.1002/ana.20473. |
| 8614490 | Background | Crawford TO. From enigmatic to problematic: the new molecular genetics of childhood spinal muscular atrophy. Neurology. 1996 Feb;46(2):335-40. doi: 10.1212/wnl.46.2.335. No abstract available. |
| 1972783 | Background | Gilliam TC, Brzustowicz LM, Castilla LH, Lehner T, Penchaszadeh GK, Daniels RJ, Byth BC, Knowles J, Hislop JE, Shapira Y, et al. Genetic homogeneity between acute and chronic forms of spinal muscular atrophy. Nature. 1990 Jun 28;345(6278):823-5. doi: 10.1038/345823a0. |
| 7910982 | Background | Melki J, Lefebvre S, Burglen L, Burlet P, Clermont O, Millasseau P, Reboullet S, Benichou B, Zeviani M, Le Paslier D, et al. De novo and inherited deletions of the 5q13 region in spinal muscular atrophies. Science. 1994 Jun 3;264(5164):1474-7. doi: 10.1126/science.7910982. |
| 10369862 | Background | Monani UR, Lorson CL, Parsons DW, Prior TW, Androphy EJ, Burghes AH, McPherson JD. A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. Hum Mol Genet. 1999 Jul;8(7):1177-83. doi: 10.1093/hmg/8.7.1177. |
| 9245983 | Background | Campbell L, Potter A, Ignatius J, Dubowitz V, Davies K. Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype. Am J Hum Genet. 1997 Jul;61(1):40-50. doi: 10.1086/513886. |
| 9207792 | Background | Lefebvre S, Burlet P, Liu Q, Bertrandy S, Clermont O, Munnich A, Dreyfuss G, Melki J. Correlation between severity and SMN protein level in spinal muscular atrophy. Nat Genet. 1997 Jul;16(3):265-9. doi: 10.1038/ng0797-265. |
| 10655541 | Background | Monani UR, Sendtner M, Coovert DD, Parsons DW, Andreassi C, Le TT, Jablonka S, Schrank B, Rossoll W, Prior TW, Morris GE, Burghes AH. The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy. Hum Mol Genet. 2000 Feb 12;9(3):333-9. doi: 10.1093/hmg/9.3.333. |
| 11791208 | Background | Feldkotter M, Schwarzer V, Wirth R, Wienker TF, Wirth B. Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. Am J Hum Genet. 2002 Feb;70(2):358-68. doi: 10.1086/338627. Epub 2001 Dec 21. |
| 11839954 | Background | Mailman MD, Heinz JW, Papp AC, Snyder PJ, Sedra MS, Wirth B, Burghes AH, Prior TW. Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2. Genet Med. 2002 Jan-Feb;4(1):20-6. doi: 10.1097/00125817-200201000-00004. |
| 9323130 | Background | Fischer U, Liu Q, Dreyfuss G. The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis. Cell. 1997 Sep 19;90(6):1023-9. doi: 10.1016/s0092-8674(00)80368-2. |
| 11504946 | Background | Chang JG, Hsieh-Li HM, Jong YJ, Wang NM, Tsai CH, Li H. Treatment of spinal muscular atrophy by sodium butyrate. Proc Natl Acad Sci U S A. 2001 Aug 14;98(17):9808-13. doi: 10.1073/pnas.171105098. |
| 11734549 | Background | Andreassi C, Jarecki J, Zhou J, Coovert DD, Monani UR, Chen X, Whitney M, Pollok B, Zhang M, Androphy E, Burghes AH. Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients. Hum Mol Genet. 2001 Nov 15;10(24):2841-9. doi: 10.1093/hmg/10.24.2841. |
| 12915451 | Background | Brichta L, Hofmann Y, Hahnen E, Siebzehnrubl FA, Raschke H, Blumcke I, Eyupoglu IY, Wirth B. Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy. Hum Mol Genet. 2003 Oct 1;12(19):2481-9. doi: 10.1093/hmg/ddg256. Epub 2003 Jul 29. |
| 14560316 | Background | Andreassi C, Angelozzi C, Tiziano FD, Vitali T, De Vincenzi E, Boninsegna A, Villanova M, Bertini E, Pini A, Neri G, Brahe C. Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy. Eur J Hum Genet. 2004 Jan;12(1):59-65. doi: 10.1038/sj.ejhg.5201102. |
| 4279150 | Background | Bohmer T, Rydning A, Solberg HE. Carnitine levels in human serum in health and disease. Clin Chim Acta. 1974 Nov 20;57(1):55-61. doi: 10.1016/0009-8981(74)90177-6. No abstract available. |
| 915022 | Background | Brooks H, Goldberg L, Holland R, Klein M, Sanzari N, DeFelice S. Carnitine-induced effects on cardiac and peripheral hemodynamics. J Clin Pharmacol. 1977 Oct;17(10 Pt 1):561-8. doi: 10.1177/009127007701701003. No abstract available. |
| 974147 | Background | Christiansen RZ, Bremer J. Active transport of butyrobetaine and carnitine into isolated liver cells. Biochim Biophys Acta. 1976 Nov 2;448(4):562-77. doi: 10.1016/0005-2736(76)90110-3. |
| Background | Lindstedt S, Lindstedt G. Distribution and Excretion of Carnitine in the Rat. Acta. Chem. Scand. 1961;15:701-702 |
| 6348429 | Background | Rebouche CJ, Engel AG. Carnitine metabolism and deficiency syndromes. Mayo Clin Proc. 1983 Aug;58(8):533-40. |
| 3524622 | Background | Rebouche CJ, Paulson DJ. Carnitine metabolism and function in humans. Annu Rev Nutr. 1986;6:41-66. doi: 10.1146/annurev.nu.06.070186.000353. |
| 2143048 | Background | Igarashi N, Sato T, Kyouya S. Secondary carnitine deficiency in handicapped patients receiving valproic acid and/or elemental diet. Acta Paediatr Jpn. 1990 Apr;32(2):139-45. doi: 10.1111/j.1442-200x.1990.tb00799.x. |
| 1570210 | Background | Thurston JH, Hauhart RE. Amelioration of adverse effects of valproic acid on ketogenesis and liver coenzyme A metabolism by cotreatment with pantothenate and carnitine in developing mice: possible clinical significance. Pediatr Res. 1992 Apr;31(4 Pt 1):419-23. doi: 10.1203/00006450-199204000-00023. |
| 8134167 | Background | Tein I, DiMauro S, Xie ZW, De Vivo DC. Valproic acid impairs carnitine uptake in cultured human skin fibroblasts. An in vitro model for the pathogenesis of valproic acid-associated carnitine deficiency. Pediatr Res. 1993 Sep;34(3):281-7. doi: 10.1203/00006450-199309000-00008. |
| 8040784 | Background | Melegh B, Pap M, Morava E, Molnar D, Dani M, Kurucz J. Carnitine-dependent changes of metabolic fuel consumption during long-term treatment with valproic acid. J Pediatr. 1994 Aug;125(2):317-21. doi: 10.1016/s0022-3476(94)70218-7. |
| 7980539 | Background | Tein I, Xie ZW. Reversal of valproic acid-associated impairment of carnitine uptake in cultured human skin fibroblasts. Biochem Biophys Res Commun. 1994 Oct 28;204(2):753-8. doi: 10.1006/bbrc.1994.2523. |
| 8830002 | Background | Van Wouwe JP. Carnitine deficiency during valproic acid treatment. Int J Vitam Nutr Res. 1995;65(3):211-4. |
| 12769764 | Background | Evangeliou A, Vlassopoulos D. Carnitine metabolism and deficit--when supplementation is necessary? Curr Pharm Biotechnol. 2003 Jun;4(3):211-9. doi: 10.2174/1389201033489829. |
| 6142383 | Background | Coulter DL. Carnitine deficiency: a possible mechanism for valproate hepatotoxicity. Lancet. 1984 Mar 24;1(8378):689. doi: 10.1016/s0140-6736(84)92209-8. No abstract available. |
| 2002205 | Background | Coulter DL. Carnitine, valproate, and toxicity. J Child Neurol. 1991 Jan;6(1):7-14. doi: 10.1177/088307389100600102. |
| Background | Scriver C, Beautet A, Sly W, Valle D. The Metabolic Basis of Inherited Disease. New York: McGraw Hill, 1989 |
| Background | Schaub J, Van Hoof F, Vis H. Inborn Errors of Metabolism. New York: Raven Press, 1991 |
| 7663792 | Background | Standardization of Spirometry, 1994 Update. American Thoracic Society. Am J Respir Crit Care Med. 1995 Sep;152(3):1107-36. doi: 10.1164/ajrccm.152.3.7663792. No abstract available. |
| 12186831 | Background | American Thoracic Society/European Respiratory Society. ATS/ERS Statement on respiratory muscle testing. Am J Respir Crit Care Med. 2002 Aug 15;166(4):518-624. doi: 10.1164/rccm.166.4.518. No abstract available. |
| COMPLETED |
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| NOT COMPLETED |
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| ID | Title | Description |
|---|---|---|
| BG000 | SMA Type 1 | All patients will receive VPA and carnitine. Valproic Acid and Levocarnitine: Drug: Valproic Acid and Levocarnitine; syrup; dosage is by weight |
| Units | Counts |
|---|---|
| Participants |
|
| Title | Description | Population Description | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Denominator Units Selected | Denominators | Classes | |||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Age, Continuous | Mean | Standard Deviation | months |
| ||||||||||||||||||||||
| Sex: Female, Male | Count of Participants | Participants |
| |||||||||||||||||||||||
| Region of Enrollment | Number | participants |
|
| Type | Title | Description | Population Description | Reporting Status | Anticipated Posting Date | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Time Frame | Units Analyzed | Denominator Units Selected | Arm/Group Information | Denominators | Classes | Analyses | ||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Primary | Laboratory Safety Data | Not Posted | -2 weeks, + 2 weeks, 3 months, 6 months | |||||||||||||||||||||||||||||||||||||||||||
| Primary | Anthropometric Measures of Nutritional Status (Body Mass Index [BMI] Z-scores, Weight for Length Ratios, Lean/Fat Mass Via DEXA, Growth Parameters, and Triceps Skinfold Measures) | 20 participants have baseline values, only 12 have 3 and 6 month values | Posted | Mean | Standard Deviation | g | -2 weeks, time 0, 3 months, 6 months |
|
|
| ||||||||||||||||||||||||||||||||||||
| Secondary | Time to Death or Ventilator Dependence (Defined as >16 Hours/Day) | Not Posted | monthly | |||||||||||||||||||||||||||||||||||||||||||
| Secondary | Primary Caregiver Functional Rating Scale for SMA Type I Subjects (PCFRS) | Not Posted | time 0, and monthly for 12 months | |||||||||||||||||||||||||||||||||||||||||||
| Secondary | Functional Motor Assessments: TIMPSI Scores | Not Posted | -2 weeks, time 0, 3 months, 6 months | |||||||||||||||||||||||||||||||||||||||||||
| Secondary | Quantitative SMN mRNA and Protein Measures | Not Posted | -2 weeks, time 0 , 3 months, or 6 months | |||||||||||||||||||||||||||||||||||||||||||
| Secondary | Maximum Ulnar CMAP Amplitude/Area and MUNE | Not Posted | -2 weeks, time 0, 3 months, 6 months | |||||||||||||||||||||||||||||||||||||||||||
| Secondary | Whole Body DEXA Scanning for Lean Body Mass and Total Bone Mineral Density/ Content | Not Posted | -2 weeks or time 0, 3 months, 6 months |
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| ID | Title | Description | Deaths (Affected) | Deaths (At Risk) | Serious Events (Affected) | Serious Events (At Risk) | Other Events (Affected) | Other Events (At Risk) |
|---|---|---|---|---|---|---|---|---|
| EG000 | SMA Type 1 | All patients will receive VPA and carnitine. Valproic Acid and Levocarnitine: Drug: Valproic Acid and Levocarnitine; syrup; dosage is by weight | 29 | 38 | 36 | 38 |
| Term | Organ System | Source Vocabulary | Assessment Type | Notes | Statistical Information |
|---|---|---|---|---|---|
| Pneumonitis | Respiratory, thoracic and mediastinal disorders |
| |||
| Cardiac Arrest | Cardiac disorders |
| |||
| Congenital familial and genetic disorders - Other, specify | Congenital, familial and genetic disorders |
| |||
| Dysphagia | Gastrointestinal disorders |
| |||
| Gastroesophageal reflux disease | Gastrointestinal disorders |
| |||
| Gastrointestinal disorders - Other, specify | Gastrointestinal disorders |
| |||
| Fever | General disorders |
| |||
| Pain | General disorders |
| |||
| General disorders and administration site conditions - Other, specify | General disorders |
| |||
| Bronchial Infection | Infections and infestations |
| |||
| Lip Infection | Infections and infestations |
| |||
| Lung Infection | Infections and infestations |
| |||
| Wound Infection | Infections and infestations |
| |||
| Injury, poisoning and procedural complications - Other, specify | Injury, poisoning and procedural complications |
| |||
| Urine output decreased | Investigations |
| |||
| Investigations - Other, specify | Investigations |
| |||
| Dehydration | Metabolism and nutrition disorders |
| |||
| Metabolism and nutrition disorders - Other, specify | Metabolism and nutrition disorders |
| |||
| Aspiration | Respiratory, thoracic and mediastinal disorders |
| |||
| Atelectasis | Respiratory, thoracic and mediastinal disorders |
| |||
| Cough | Respiratory, thoracic and mediastinal disorders |
| |||
| Hypoxia | Respiratory, thoracic and mediastinal disorders |
| |||
| Nasal Congestion | Respiratory, thoracic and mediastinal disorders |
| |||
| Respiratory Failure | Respiratory, thoracic and mediastinal disorders |
| |||
| Respiratory, thoracic and mediastinal disorders - Other, specify | Respiratory, thoracic and mediastinal disorders |
| |||
| Hypotension | Vascular disorders |
|
| Term | Organ System | Source Vocabulary | Assessment Type | Notes | Statistical Information |
|---|---|---|---|---|---|
| Anemia | Blood and lymphatic system disorders |
| |||
| Middle Ear Inflammation | Ear and labyrinth disorders |
| |||
| Ear and labyrinth disorders - Other, specify | Ear and labyrinth disorders |
| |||
| Conjunctivitis | Eye disorders |
| |||
| Abdominal Pain | Gastrointestinal disorders |
| |||
| Diarrhea | Gastrointestinal disorders |
| |||
| Flatulence | Gastrointestinal disorders |
| |||
| Gastroesophageal reflux disease | Gastrointestinal disorders |
| |||
| Vomiting | Gastrointestinal disorders |
| |||
| Gastrointestinal disorders - Other, specify | Gastrointestinal disorders |
| |||
| Fever | General disorders |
| |||
| Irritability | General disorders |
| |||
| Pain | General disorders |
| |||
| General disorders and administration site conditions - Other, specify | General disorders |
| |||
| Allergic Reaction | Immune system disorders |
| |||
| Bronchial Infection | Infections and infestations |
| |||
| Conjunctivitis infective | Infections and infestations |
| |||
| Lung infection | Infections and infestations |
| |||
| Mucosal infection | Infections and infestations |
| |||
| Rhinitis infective | Infections and infestations |
| |||
| Sinusitis | Infections and infestations |
| |||
| Skin Infection | Infections and infestations |
| |||
| Urinary tract infection | Infections and infestations |
| |||
| Infections and infestations - Other, specify | Infections and infestations |
| |||
| Fracture | Injury, poisoning and procedural complications |
| |||
| Injury, poisoning and procedural complications - Other, specify | Injury, poisoning and procedural complications |
| |||
| Alanine aminotransferase increased | Investigations |
| |||
| Neutrophil count decreased | Investigations |
| |||
| Weight Loss | Investigations |
| |||
| Investigations - Other, specify | Investigations |
| |||
| Glucose intolerance | Metabolism and nutrition disorders |
| |||
| Nystagmus | Nervous system disorders |
| |||
| Vasovagal reaction | Nervous system disorders |
| |||
| Nervous system disorders - Other, specify | Nervous system disorders |
| |||
| Aspiration | Respiratory, thoracic and mediastinal disorders |
| |||
| Atelectasis | Respiratory, thoracic and mediastinal disorders |
| |||
| Cough | Respiratory, thoracic and mediastinal disorders |
| |||
| Hypoxia | Respiratory, thoracic and mediastinal disorders |
| |||
| Nasal congestion | Respiratory, thoracic and mediastinal disorders |
| |||
| Pneumonitis | Respiratory, thoracic and mediastinal disorders |
| |||
| Productive cough | Respiratory, thoracic and mediastinal disorders |
| |||
| Respiratory, thoracic and mediastinal disorders - Other, specify | Respiratory, thoracic and mediastinal disorders |
| |||
| Dry Skin | Skin and subcutaneous tissue disorders |
| |||
| Rash maculo-papular | Skin and subcutaneous tissue disorders |
| |||
| Skin ulceration | Skin and subcutaneous tissue disorders |
| |||
| Skin and subcutaneous tissue disorders - Other, specify | Skin and subcutaneous tissue disorders |
|
Not provided
Not provided
| Title | Organization | Phone | Extension | |
|---|---|---|---|---|
| Dr. Kathryn Swoboda | University of Utah | 801-585-9717 | swoboda@genetics.utah.edu |
| ID | Term |
|---|---|
| D014897 | Spinal Muscular Atrophies of Childhood |
| D009134 | Muscular Atrophy, Spinal |
| ID | Term |
|---|---|
| D013118 | Spinal Cord Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D020271 | Heredodegenerative Disorders, Nervous System |
| D019636 | Neurodegenerative Diseases |
| D016472 | Motor Neuron Disease |
| D009468 | Neuromuscular Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
Not provided
Not provided
| ID | Term |
|---|---|
| D014635 | Valproic Acid |
| D002331 | Carnitine |
| ID | Term |
|---|---|
| D010421 | Pentanoic Acids |
| D014631 | Valerates |
| D000144 | Acids, Acyclic |
| D002264 | Carboxylic Acids |
| D009930 | Organic Chemicals |
| D005232 | Fatty Acids, Volatile |
| D005227 | Fatty Acids |
| D008055 | Lipids |
| D050337 | Trimethyl Ammonium Compounds |
| D000644 | Quaternary Ammonium Compounds |
| D000588 | Amines |
Not provided
Not provided
| Germany |
|
| Title | Measurements |
|---|---|
|
| Fat Mass Baseline |
|
| Fat Mass 3 months |
|
| Fat Mass 6 months |
|