Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| Name | Class |
|---|---|
| University of Colorado, Denver | OTHER |
| Vanderbilt University School of Medicine | OTHER |
| University of Alabama at Birmingham | OTHER |
| University of Pennsylvania |
Not provided
Not provided
Not provided
Not provided
Not provided
The Diagnostic Experience of Male Rett Syndrome collects information on the lived experiences of parents or caregivers to boys with Rett Syndrome. Key information examined includes the process of getting a male Rett syndrome diagnosis, your son's systems of care, and your priorities for his health needs.
Enrolled participants will complete an online survey with questions about having a son with Rett Syndrome. The Diagnostic Experience of Male Rett Syndrome study is available to parents or caregivers to boys (alive or passed) with Rett Syndrome. Compensation is not provided.
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Male Rett | Genetic | This study does not have an intervention. Participants of this study must be parents or caregivers to boys with Rett syndrome. |
| Measure | Description | Time Frame |
|---|---|---|
| Diagnostic experiences | Qualitative interview | retrospective from birth |
| Attainment of developmental milestones and any regressions | Remote survey of developmental milestones, reported in months | retrospective from birth |
| QI-disability | "QI-Disability" is a published remote survey of symptom ratings that are combined into an aggregate score of quality of life | retrospective over prior month |
| Parent priorities for care and counseling | Remote survey the asks parents to prioritize with a rating scale their priorities for patient care | retrospective from birth |
| Parenting experience | Remote survey the asks parents to rate with a rating scale their parenting experience | retrospective from birth |
| Information regarding child's death, if applicable | Questionnaire that asks parents about the details of their child's death, if applicable | retrospective from birth |
| Measure | Description | Time Frame |
|---|---|---|
| Family demographics | Questionnaire | retrospective, over last 12 months |
| Systems of supports | Questionnaire | retrospective, over last 12 months |
Not provided
Inclusion Criteria:
Exclusion Criteria:
Not provided
Not provided
Not provided
Parents/caregivers to boys with Rett syndrome
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Natalia Klamut | Contact | ‪(720) 277-9095‬ | malerettstudy@cuanschutz.edu |
| Name | Affiliation | Role |
|---|---|---|
| Timothy Benke, MD, PhD | University of Colorado, Denver | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University of Colorado Anschutz Medical Campus | Recruiting | Aurora | Colorado | 80045 | United States |
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| ID | Term |
|---|---|
| D015518 | Rett Syndrome |
| ID | Term |
|---|---|
| D038901 | X-Linked Intellectual Disability |
| D008607 | Intellectual Disability |
| D019954 | Neurobehavioral Manifestations |
| D009461 | Neurologic Manifestations |
Not provided
Not provided
| OTHER |
| International Rett Syndrome Foundation | OTHER |
| Rocky Mountain Rett Association | UNKNOWN |
Not provided
Not provided
Not provided
| Healthcare preferences | Questionnaire | retrospective, over last 12 months |
| D009422 | Nervous System Diseases |
| D040181 | Genetic Diseases, X-Linked |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D020271 | Heredodegenerative Disorders, Nervous System |