MySyndrome - Rare Disease Patient Registry for Treatability, Natural History, Phenotype and Psychosozial Aspects of Rare Genetic Developmental Diseases

MySyndrome - Rare Disease Patient Registry for Treatability, Natural History, Phenotype and Psychosozial Aspects of Rare Genetic Developmental Diseases - MySyndrome

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

DRKS

Registry ID

DRKS00033193

Enrollment

1000

Registered

2023-12-05

Start date

2024-01-01

Completion date

Unknown

Last updated

2025-12-08

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

CNVs and SNVs, associated with a developmental disease, e.g. 1p21.3 Deletionssyndrom, 1q partielle Trisomie 1q21.1, duplication 1q21q22, deletion 1q43q44, Deletion 2q11.2, Deletion 5p, Cri-du-chat-Syndrom, 7q11.23 Deletion, Williams-Beuren-Syndrom, 7q36 Deletion, 8p23 Duplication, 9p Deletion, 10p duplication, 12p13.33p12.1 Duplikation, 15p11.2 deletion, Burnside-Butler-Syndrom, 15q11q13 Deletion, 15q11q13 Duplication, 16p11.2 distale Deletion, 16p11.2 proximale Deletion, 16p13.3 Duplication,

Interventions

Group 1: Individuals with rare genetic developmental diseases We plan to evaluate the data obtained in the course of routine treatment for our study over a period of 20 years. This involve the follow

Eligibility

Sex/Gender

All

Age

No minimum to 20 Years

Inclusion criteria

Inclusion criteria: rare genetic developmental disease

Exclusion criteria

Exclusion criteria: none

Design outcomes

Primary

Measure	Time frame
20 years after begin of the datacollection The aim of the registry study is to better describe newly discovered and rare genetic developmental disorders. In particular, the effect of any off-label or approved precision therapies. In addition, the clinical course, the phenotype (especially that of the mildly or atypically affected patients) as well as psychosocial aspects of the patients and their families will be investigated.	—

Measure

Time frame

20 years after begin of the datacollection The aim of the registry study is to better describe newly discovered and rare genetic developmental disorders. In particular, the effect of any off-label or approved precision therapies. In addition, the clinical course, the phenotype (especially that of the mildly or atypically affected patients) as well as psychosocial aspects of the patients and their families will be investigated.

—

Countries

Germany

Contacts

Public ContactMarta Somorai

kbo-Kinderzentrum / TUM Lehrstuhl Sozialpädaitrie

Syndromsprechstunde.KIZ-HHS@kbo.de+4989710090

Outcome results

None listed

Source: DRKS (via WHO ICTRP) · Data processed: Feb 4, 2026