Diagnosis and Treatment of Patients With Inborn Errors of Metabolism : Diagnosis and Treatment of Patients With Inborn Errors of Metabolism or Other Genetic Disorders
We propose to characterize the etiology and natural history of rare inborn errors of metabolism and other genetic disorders, both known and yet-to-be discovered. In so doing, we will expand our knowledge about these disorders and provide access to patients of interest for research, teaching, and clinical experience. Individual patients seen under this protocol have prompted the establishment of specific disease-related protocols involving intensive natural history studies and innovative therapies. In the past, this protocol provided an avenue for admitting patients as part of the NIH Undiagnosed Diseases Program (UDP). Currently, this protocol continues its longstanding role in investigating individuals who are of interest to the Section on Human Biochemical Genetics or to the protocol s Associate Investigators..
| Medienart: |
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Klinische Studie| Erscheinungsjahr: |
2024 |
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| Erschienen: |
2024 |
| Enthalten in: |
ClinicalTrials.gov - (2024) vom: 23. Apr. Zur Gesamtaufnahme - year:2024 |
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| Sprache: |
Englisch |
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| Links: |
Volltext [kostenfrei] |
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| Themen: |
610 |
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| Anmerkungen: |
Source: Link to the current ClinicalTrials.gov record., First posted: August 29, 2006, Last downloaded: ClinicalTrials.gov processed this data on April 24, 2024, Last updated: April 24, 2024 |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
CTG00032163X |
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| 245 | 1 | 0 | |a Diagnosis and Treatment of Patients With Inborn Errors of Metabolism |b Diagnosis and Treatment of Patients With Inborn Errors of Metabolism or Other Genetic Disorders |
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| 520 | |a We propose to characterize the etiology and natural history of rare inborn errors of metabolism and other genetic disorders, both known and yet-to-be discovered. In so doing, we will expand our knowledge about these disorders and provide access to patients of interest for research, teaching, and clinical experience. Individual patients seen under this protocol have prompted the establishment of specific disease-related protocols involving intensive natural history studies and innovative therapies. In the past, this protocol provided an avenue for admitting patients as part of the NIH Undiagnosed Diseases Program (UDP). Currently, this protocol continues its longstanding role in investigating individuals who are of interest to the Section on Human Biochemical Genetics or to the protocol s Associate Investigators. | ||
| 650 | 2 | |a Metabolism, Inborn Errors | |
| 650 | 4 | |a Study Type: Observational | |
| 650 | 4 | |a Recruitment Status: Recruiting | |
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