ISTRAŽIVANJE
GNB1 Studij prirodne povijesti
Grupa za zagovaranje GNB1 udružio se s Klinikom za kretanje Dječje bolnice u Bostonu (BCH) kako bi pokrenuo studiju prirodnog povijesti ! Studija prirodnog povijesti bit će dio veće PEDS (studije dječje epilepsije i diskinezije) u BCH-u. Cilj studije je pratiti prirodni tijek GNB1 i GNB2 kod pacijenata s tim stanjem, razumjeti njihovu medicinsku povijest, simptome i funkcioniranje.
Ova studija uključuje dva dijela: početnu procjenu i godišnje kontrolne procjene
Osnovna procjena: Ova početna procjena pomaže u uspostavljanju sveobuhvatnog razumijevanja vaše medicinske povijesti, simptoma i funkcionalnih sposobnosti.
Prikupljanje bioloških uzoraka: BCH može zatražiti uzimanje krvi ili drugih bioloških uzoraka kao dio ove studije. Ne morate pristati na ovo da biste sudjelovali u studiji. Ako pristanete, troškovi prikupljanja mogu, ali i ne moraju biti povezani s njima.
Godišnja procjena praćenja: Ova godišnja procjena procjenjuje sve promjene u vašoj medicinskoj anamnezi, simptomima i funkcionalnim sposobnostima tijekom protekle godine. Pomaže u praćenju napredovanja bolesti, učinkovitosti liječenja i općeg zdravstvenog stanja.
UPIŠITE SE VEĆ DANAS!
Za više detalja o koracima uključenim u studiju, posjetite ovu web stranicu:
https://www.def-lab.org/natural-history-study-visits/
Do upisati u studiji, molimo kontaktirajte movementdisorders@childrens.harvard.edu
Obavijestite ih da ste GNB1 (ili GNB2) pacijent ili roditelj/skrbnik GNB1/GNB2 pacijenta i da se želite uključiti u PEDS studiju.
Važne napomene o studiji:
Ovu studiju vodi Dječja bolnica u Bostonu, a vode je dr. Darius Ebrahimi-Fakhari i dr. Kathryn Yang. Grupa za zastupanje može pomoći u odgovorima na pitanja o studiji, ali u BCH-u postoji vješt tim posvećen tome da vam pomogne u svakom koraku studije. Nakon što se upišete, molimo vas da ih koristite kao svoju prvu kontakt liniju.
Prilikom početne procjene, BCH tim će također pregledati detalje studije kao i vaša prava i obveze te odgovoriti na sva vaša pitanja o sudjelovanju.
Tim za BCH studiju spreman je upisati vas iz udobnosti vašeg doma. Sve što vam treba je internetska veza i pristup Zoomu. Prijevod je dostupan na gotovo sve jezike. Ako utvrde da bi bilo korisno koordinirati se s vašim lokalnim liječnikom, obavijestit će vas, a vi možete odlučiti želite li to učiniti.
Sudjelovanje u ovoj studiji je besplatno. Ako se odlučite posjetiti svog lokalnog liječnika radi sudjelovanja u studiji, od vas se može očekivati da platite cijenu koju biste inače platili za posjet tom liječniku.
Često postavljana pitanja
What is a natural history study?
A natural history study is a type of research where doctors observe how a disease develops over time. It helps to identify factors like genetics, environment, and existing medications that might affect how the disease progresses. The goal is to understand the disease’s natural course—from when it starts to its outcome—whether that’s improvement, resolution, stagnation, or decline.
Why is a natural history study important?
A natural history study is essential, and often required, for gene therapy clinical trials, and other research into treatments. It provides crucial data on how the disease progresses and varies. It will allow for a better understanding of the disease as a whole, and can provide important information to assist patients, their caregivers, and providers in knowing what to expect and ways they can respond.
Why are natural history studies important for gene therapy trials?
Natural history studies:
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Establish a Baseline: Understanding the natural progression of a disease is crucial for treatment development.
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Disease Understanding: These studies provide valuable insights into the symptoms, risk factors, progression, and complications of rare diseases, where such data is often limited.
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Refine Clinical Endpoints: The data helps identify meaningful endpoints and biomarkers to accurately assess the gene therapy’s impact.
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Patient Selection: Natural history data helps pinpoint the right patients for clinical trials, ensuring they provide the most relevant information.
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Regulatory Approval: Regulatory agencies like the FDA require comprehensive natural history data to evaluate the safety and efficacy of new treatments.
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Support Trial Design: Understanding disease variability and progression helps determine the appropriate duration and size of clinical trials, and supports the use of control groups.
What is the difference between a natural history study and a patient registry?
Patient registries and natural history studies are crucial for driving research forward. Both resources hold information on the experiences of patients and caregivers, and they offer valuable insights to researchers, industry partners who help make drug therapies, regulators, clinical providers, caregivers, and to patients themselves. The data gathered differs- in our case, we are asking patients and their caregivers to provide personal experience information in the patient registry, and in the natural history study we are asking clinicians to verify specific data on the physical presentation of the disease. These databases play a key role in developing an understanding of the disease that can inform research and provide helpful information to patients and their families.
A patient registry, like our existing GNB1 registry, is a collection of data about individuals with a specific condition, often focused on tracking patients over time. Registries can include patients at any stage of the condition and can be used for various purposes, such as identifying patterns, supporting clinical trials, or guiding treatment decisions. Our registry provides patient experience data to researchers who want to study the various aspects of GNB1.
A natural history study, on the other hand, is a type of observational research that specifically follows the progression of a disease or condition. It aims to understand how the disease develops over time, providing insight into the course of the disease, its symptoms, and how it might vary across different patients. Natural history studies are typically designed before treatment options are available, and they can help researchers inform treatment approaches by understanding the disease's natural course.
In short:
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Patient registry: Tracks ongoing data on individuals with a specific disease, often including treatment and outcomes.Observations reported by patients alone, not verified by physicians.
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Natural history study: Observes the progression of a disease, focusing on understanding its development. Observations made by qualified physicians, in coordination with patients.